Shigeo Murayama

This study demonstrates that tau filaments from Alzheimer's and corticobasal degeneration patients can seed the formation of structurally identical mouse tau filaments, supporting the prion-like transmission hypothesis.

This study identifies GPR34 as a regulator of microglial amyloid β fibril uptake, showing that its agonist enhances fibril clearance and that its expression declines with age and AD progression.

The paper identifies APOE rare missense variants in the Japanese population and finds two variants associated with protective effects against Alzheimer's disease.

This study identifies heteromeric amyloid filaments composed of ANXA11 and TDP-43 in FTLD-TDP Type C using cryo-EM, revealing a new pathological mechanism.

This paper evaluates the polygenic risk score for Alzheimer's disease in Japanese individuals, showing its utility despite genetic differences from European populations.

The paper reports cryo-EM structures of tau filaments formed in SH-SY5Y cells seeded with brain extracts from Alzheimer's and corticobasal degeneration cases, showing some structural templating.

The paper investigates somatic recombination of Alu and L1 repeat elements in human genomes, finding tissue-specific patterns and links to neurodegenerative diseases.

The paper reports cryo-EM structures of α-synuclein filaments from Parkinson's disease, PD dementia, and dementia with Lewy bodies, showing they are composed of a single protofilament distinct from those in multiple system atrophy.

The paper uses deep learning and genome-wide association studies to identify genetic loci associated with right heart structure and function in 40,000 individuals.

This paper introduces PolyPred and PolyPred+ to improve cross-population polygenic risk score accuracy by addressing LD, MAF, and causal effect size differences using fine-mapping and non-European training data.

This study identifies age-dependent formation of TMEM106B amyloid filaments in human brains using cryo-EM, showing they appear in older individuals but not younger ones.

Cross-population GWAS of 220 phenotypes in BioBank Japan, UK Biobank, and FinnGen (n=628,000) identifies 5,343 previously unreported loci and decomposes summary statistics into latent genetic components for disease subtyping.

Cryo-EM structures sort four-repeat tauopathies into three-layered (PSP, GGT, LNT) and four-layered (CBD, AGD, ARTAG, MAPT intron 10 mutations) tau folds, grounding a hierarchical structure-based classification.

The paper uses supervised learning to fine-map cis-eQTLs, identifying 20,913 additional putative causal eQTLs and 310 candidate genes.

A large-scale GWAS in 212,453 Japanese individuals identified 45 novel susceptibility loci for 22 diseases, highlighting the importance of non-European population studies.

This study determines the structure of α-synuclein filaments in multiple system atrophy using cryo-EM, revealing distinct filament types and conformers that differ from in vitro assemblies.

This paper reports the structure of tau filaments in corticobasal degeneration using cryo-EM, revealing a novel four-layered fold distinct from other tauopathies.

This study shows that ectopic expression of human tau in mice leads to abnormal somatodendritic distribution, while knock-in mice show normal axonal localization due to developmental expression patterns.